These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

509 related articles for article (PubMed ID: 23623851)

  • 1. [Clinical features of two cases of pseudohypoparathyroidism (ia and ib) and molecular analysis of GNAS].
    Domínguez García A; Castaño González LA; Pérez-Nanclares G; Quinteiro González S; Caballero Fernández E
    An Pediatr (Barc); 2013 Nov; 79(5):319-24. PubMed ID: 23623851
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
    Zazo C; Thiele S; Martín C; Fernandez-Rebollo E; Martinez-Indart L; Werner R; Garin I; ; Hiort O; Perez de Nanclares G
    J Bone Miner Res; 2011 Aug; 26(8):1864-70. PubMed ID: 21351142
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GNAS locus and pseudohypoparathyroidism.
    Bastepe M; Jüppner H
    Horm Res; 2005; 63(2):65-74. PubMed ID: 15711092
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
    Mantovani G; de Sanctis L; Barbieri AM; Elli FM; Bollati V; Vaira V; Labarile P; Bondioni S; Peverelli E; Lania AG; Beck-Peccoz P; Spada A
    J Clin Endocrinol Metab; 2010 Feb; 95(2):651-8. PubMed ID: 20061437
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The GNAS locus and pseudohypoparathyroidism.
    Bastepe M
    Adv Exp Med Biol; 2008; 626():27-40. PubMed ID: 18372789
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.
    Elli FM; de Sanctis L; Bollati V; Tarantini L; Filopanti M; Barbieri AM; Peverelli E; Beck-Peccoz P; Spada A; Mantovani G
    J Clin Endocrinol Metab; 2014 Mar; 99(3):E508-17. PubMed ID: 24423294
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
    de Nanclares GP; Fernández-Rebollo E; Santin I; García-Cuartero B; Gaztambide S; Menéndez E; Morales MJ; Pombo M; Bilbao JR; Barros F; Zazo N; Ahrens W; Jüppner H; Hiort O; Castaño L; Bastepe M
    J Clin Endocrinol Metab; 2007 Jun; 92(6):2370-3. PubMed ID: 17405843
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
    Lecumberri B; Fernández-Rebollo E; Sentchordi L; Saavedra P; Bernal-Chico A; Pallardo LF; Bustos JM; Castaño L; de Santiago M; Hiort O; Pérez de Nanclares G; Bastepe M
    J Med Genet; 2010 Apr; 47(4):276-80. PubMed ID: 19858129
    [TBL] [Abstract][Full Text] [Related]  

  • 9. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?
    Mantovani G; Elli FM; Spada A
    Horm Metab Res; 2012 Sep; 44(10):716-23. PubMed ID: 22674477
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Recent advances in GNAS epigenetic research of pseudohypoparathyroidism.
    Izzi B; Van Geet C; Freson K
    Curr Mol Med; 2012 Jun; 12(5):566-73. PubMed ID: 22300135
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
    Mantovani G; Bondioni S; Linglart A; Maghnie M; Cisternino M; Corbetta S; Lania AG; Beck-Peccoz P; Spada A
    J Clin Endocrinol Metab; 2007 Sep; 92(9):3738-42. PubMed ID: 17595244
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.
    de Sanctis L; Giachero F; Mantovani G; Weber G; Salerno M; Baroncelli GI; Elli MF; Matarazzo P; Wasniewska M; Mazzanti L; Scirè G; Tessaris D;
    Ital J Pediatr; 2016 Nov; 42(1):101. PubMed ID: 27871293
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
    Fernandez-Rebollo E; García-Cuartero B; Garin I; Largo C; Martínez F; Garcia-Lacalle C; Castaño L; Bastepe M; Pérez de Nanclares G
    J Clin Endocrinol Metab; 2010 Feb; 95(2):765-71. PubMed ID: 20008020
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
    Izzi B; Francois I; Labarque V; Thys C; Wittevrongel C; Devriendt K; Legius E; Van den Bruel A; D'Hooghe M; Lambrechts D; de Zegher F; Van Geet C; Freson K
    PLoS One; 2012; 7(6):e38579. PubMed ID: 22679513
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
    Bastepe M; Fröhlich LF; Hendy GN; Indridason OS; Josse RG; Koshiyama H; Körkkö J; Nakamoto JM; Rosenbloom AL; Slyper AH; Sugimoto T; Tsatsoulis A; Crawford JD; Jüppner H
    J Clin Invest; 2003 Oct; 112(8):1255-63. PubMed ID: 14561710
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.
    Turan S
    J Clin Res Pediatr Endocrinol; 2017 Dec; 9(Suppl 2):58-68. PubMed ID: 29280743
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetics and epigenetics of parathyroid hormone resistance.
    Bastepe M
    Endocr Dev; 2013; 24():11-24. PubMed ID: 23392091
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
    De Sanctis L; Romagnolo D; Olivero M; Buzi F; Maghnie M; Scirè G; Crino A; Baroncelli GI; Salerno M; Di Maio S; Cappa M; Grosso S; Rigon F; Lala R; De Sanctis C; Dianzani I
    Pediatr Res; 2003 May; 53(5):749-55. PubMed ID: 12621129
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pseudohypoparathyroidism type Ib in 2015.
    Mantovani G; Elli FM
    Ann Endocrinol (Paris); 2015 May; 76(2):101-4. PubMed ID: 25910998
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
    Elli FM; deSanctis L; Ceoloni B; Barbieri AM; Bordogna P; Beck-Peccoz P; Spada A; Mantovani G
    Hum Mutat; 2013 Mar; 34(3):411-6. PubMed ID: 23281139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.